Diseases of the Neuroacanthocytosis Group: A Systematic Review of Clinical Cases and Difficulties in their Diagnosis

Anna Spesivtseva, Natalya Gvarzhdets, Kazbek Autlev, Evgeny Kruchinin, Ivan Kuznetsov

Abstract


This systematic review examines diseases within the neuroacanthocytosis group, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's-like type 2 disease (HDL2), and other neurodegenerative disorders. The objective of this review is to provide a comprehensive overview of the clinical manifestations, diagnostic challenges, and current understanding of these rare hereditary diseases. Each nosological unit from this group is caused by various genetic mutations and has a different type of inheritance, pathogenetic changes, and clinical picture. Due to the rarity and relatively little knowledge of the pathogenetic foundations of these diseases, their diagnosis is a difficult task, and their treatment, as a rule, is only symptomatic

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